Canonical Allele Identifier: CA1202689162

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306724_161306725delinsCA , CM000663.2:g.161306724_161306725delinsCA	GRCh38
NC_000001.10:g.161276514_161276515delinsCA , CM000663.1:g.161276514_161276515delinsCA	GRCh37
NC_000001.9:g.159543138_159543139delinsCA	NCBI36
NG_008055.1:g.8248_8249delinsTG , LRG_256:g.8248_8249delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+64_367+65delinsTG	ENSP00000488104.2:n.367+64_367+65delinsTG...
ENST00000533357.5:c.431_432delinsTG MANE Select	ENSP00000432943.1:p.Leu144=
ENST00000672287.2:c.-158_-157delinsTG	ENSP00000499818.2:n.-158_-157delinsTG
ENST00000672602.2:c.431_432delinsTG	ENSP00000500814.2:p.Leu144=
ENST00000674861.1:n.494_495delinsTG
ENST00000463290.5:c.431_432delinsTG	ENSP00000431538.1:p.Leu144=
ENST00000491222.5:c.-158_-157delinsTG	ENSP00000431441.1:n.-158_-157delinsTG
ENST00000526189.2:c.111+64_111+65delinsTG
ENST00000533357.4:c.431_432delinsTG	ENSP00000432943.1:p.Leu144=
NM_000530.6:c.431_432delinsTG , LRG_256t1:c.431_432delinsTG	NP_000521.2:p.Leu144=
NM_000530.7:c.431_432delinsTG	NP_000521.2:p.Leu144=
NM_001315491.1:c.431_432delinsTG	NP_001302420.1:p.Leu144=
XM_017001321.2:c.461_462delinsTG	XP_016856810.1:p.Leu154=
NM_000530.8:c.431_432delinsTG MANE Select	NP_000521.2:p.Leu144=
NM_001315491.2:c.431_432delinsTG	NP_001302420.1:p.Leu144=